All individuals with variants in gene WDR19

55 entries on 1 page. Showing entries 1 - 55.
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00016535 - PubMed: Bredrup 2011 - F ? Norway ? - - - - CED - 2 1 Heleen Arts
00016536 - PubMed: Bredrup 2011 - M ? Norway ? - - - - CED - 2 1 Heleen Arts
00016537 - PubMed: Bredrup 2011, PubMed: de Vries 2010 - F ? Netherlands ? - - - - SRTD1 - 2 1 Heleen Arts
00016538 - PubMed: Bredrup 2011 Brother of patients NPHP II-3, NPHP II-5 and NPHP II-6 M ? Morocco ? - - - - NPHP1 - 2 1 Heleen Arts
00016539 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-5 and NPHP II-6 F ? Morocco ? - - - - NPHP1 - 2 1 Heleen Arts
00016540 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-6 F ? Morocco ? - - - - NPHP1 - 2 1 Heleen Arts
00016541 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-5 F ? Morocco ? - - - - NPHP1 - 2 1 Heleen Arts
00016542 - PubMed: Coussa 2013 - F ? Canada Quebec - - - - RP characteristic arRP findings with hypopigmented macular atrophy and 'bear track' changes 2 1 Heleen Arts
00016543 - PubMed: Coussa 2013 - ? ? - ? - - - - SLSN retinal dystrophy; nephronophthisis; growth retardation 2 1 Heleen Arts
00016544 - PubMed: Coussa 2013 - ? ? - ? - - - - SLSN retinal dystrophy; nephronophthisis 2 1 Heleen Arts
00016545 - PubMed: Halbritter 2013 - ? ? Egypt ? - - - - Caroli 5y end-stage renal disease 2 1 Heleen Arts
00016546 - PubMed: Halbritter 2013 - ? ? Oman ? - - - - Caroli polydactyly; retinal dystrophy; end-stage renal disease before 1y of age 2 1 Heleen Arts
00016547 - PubMed: Halbritter 2013 - ? ? United States ? - - - - Caroli coritcal blindness; pancreatic cysts; hepatic cysts; end-stage renal disease <1y of age 2 1 Heleen Arts
00016548 - PubMed: Coussa 2013 family with 6 affecteds. M yes Canada Quebec - - - - RP characteristic arRP with hypopigmented macular atrophy and bear track changes; bilateral congenital subclinical renal cysts; mild cognitive impairment 1 6 Heleen Arts
00016552 - PubMed: Fehrenbach 2014 This is a new phenotype in the phenotypic spectrum associated with WDR19 mutations (not yet annotated in OMIM). The patient had hypotonia, facial dysmorphisms, psychomotor delay, short stature, mild skeletal abnormalities, strabism, deafness, subdural hygroma, hepatosplenomegaly and end-stage renal disease (tubular atrophy, interstital fibrosis and segmental glomerulosclerosis) F ? - Philippine 08y - - hemodialysis; renal transplantation - - 1 1 Heleen Arts
00269587 - - - F no Korea - - - - - LCA - 1 1 Jinu Han
00269588 - - - M no Korea - - - - - LCA - 1 1 Jinu Han
00293616 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 106 Mohammed Faruq
00293617 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00302691 P7 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - M - Oman - - - - - PKD - 1 1 Intisar Al Alawi
00302719 P49 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - PKD - 1 1 Intisar Al Alawi
00304995 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00331590 12DG1471 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Rod-cone dystrophy 1 1 LOVD
00331591 13DG1415 PubMed: Maddirevula 2018 family F yes - Arab - - - - skeletal dysplasia Renal insufficiency, Oral cleft, Abnormal facial shape, Bifid nose, Short nose, Microdontia, No 1 1 LOVD
00331592 16DG0371 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - skeletal dysplasia Abnormal facial shape,Narrow palpebral fissure, Polydactyly, Syndactyly, Global developmNo 1 1 LOVD
00332394 Pat15 PubMed: Essilfie 2018 - F - Korea - - - - - retinal disease horizontal pendular nystagmus changed to VJ; fundus pigmentary changes; oculodigital sign; ERG extinguished; renal failure, liver failure 1 1 LOVD
00334001 498 PubMed: Stone 2017 1 affected M - (United States) - - - - - retinal disease clinical category IB 2 1 LOVD
00334262 825 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - retinal disease clinical category IIA 2 2 LOVD
00358790 BLM071 PubMed: Zhang 2016 family F - United States Hispanic - - - - retinal disease see paper; ... 2 1 LOVD
00359412 03149 - - F ? Argentina - - - - - CED - 1 1 Maria Dora Jazmin Lacarrubba-Flores
00359414 03149 - - F no Brazil - - - - - CED - 1 1 Maria Dora Jazmin Lacarrubba-Flores
00359415 03149 - - F no Brazil - - - - - CED - 1 1 Maria Dora Jazmin Lacarrubba-Flores
00359445 - - - - - (Brazil) - - - - - SRTD - 1 1 Cynthia Silveira
00359449 - - - - - (Brazil) - - - - - SRTD - 1 1 Cynthia Silveira
00363706 12DG1471 PubMed: Patel 2016 - - - Saudi Arabia - - - - - retinal disease non-syndromic 1 1 LOVD
00375419 RP#011 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 2 1 LOVD
00375430 RP#024 PubMed: Katagiri 2014 family - - Japan - - - - - retinal disease see paper; ... 1 1 LOVD
00386614 121-047 PubMed: Zampaglione-2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00386658 121-244 PubMed: Zampaglione-2020 - ? - - - - - - - retinal disease - 2 1 LOVD
00388179 36 PubMed: Surl 2020 individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database F - Korea - - - - - retinal disease Nystagmus: 2Hz DBJ bilateral symmetric, multidirectional, best corrected visual acuity right eye/left eye: 0.1/0.05, fundus: Pigmentary retinopathy, ERG: Extinguished, additional features: Nephronophthisis, Caroli disease 1 1 LOVD
00388180 37 PubMed: Surl 2020 - M - Korea - - - - - retinal disease Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: FC/FC, fundus: Pigmentary retinopathy, Marbled fundus, ERG: Extinguished, additional features: Chronic pancreatitis, Nephronophthisis, Caroli disease, Hypotonia, Mental retardation, Leigh-like syndrome 2 1 LOVD
00388403 R00-304 PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388404 R01-210A PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388405 R04-526A PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388406 R05-449C PubMed: Zhang-2019 - - - - white - - - - ? - 2 1 LOVD
00388407 R09-396A PubMed: Zhang-2019 - - - - African American - - - - ? - 2 1 LOVD
00388408 R15-017A PubMed: Zhang-2019 - - - - Pacific Islander - - - - ? - 2 1 LOVD
00388468 R03-383A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - Latino - - - - ? - 1 1 LOVD
00393997 - PubMed: Fuster-Garcia-2019 - - - - Spanish - - - - retinal disease Thalassemia minor, nyctalopia, fundoscopy. 2 1 LOVD
00394807 172-223 PubMed: Kim 2021 - ? - Korea, South (Republic) - - - - - retinal disease inherited retinal disease other than retinitis pigmentosa 2 1 LOVD
00399827 857 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
00399828 1004 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 1 1 Johan den Dunnen
00399829 1025 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 1 1 Johan den Dunnen
00399830 611 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
00399831 415 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - NPHP - 2 1 Johan den Dunnen
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